Region:

Text Size

  • Smaller
  • Regular
  • Large

Diagnosis is often delayed…although treatment for MPS VI is available

Dangers of delayed diagnosis

Both the slow and rapidly progressing forms of MPS VI result in significant declines in physical functioning and well-being, as well as a shortened lifespan.2

A survey of patients with MPS I (a similar disease to MPS VI) showed it may take as long as 2.5 years from the time a patient initially presents to final diagnosis.10 Additionally, patients are referred to as many as 9 specialists before being correctly diagnosed.10 Common and concomitant associated misdiagnoses include allergies, asthma and reactive airway disease.10

The deleterious effects of MPS VI may be minimized when the disease is recognized and patients carefully managed. Unfortunately, once multisystemic damage occurs, it cannot be reversed. Treatment, however, may help to restore endurance and slow the rate of disease progression.1,7

Undiagnosed patients often present with growth and skeletal complications:11

  • Accelerated growth in infancy coupled with advanced bone maturation is often followed by a slowing in the first few years of life and short stature11
  • Final height may range from extreme to mild short stature11
    • Rapid progressors reach a final height of 95 cm to 100 cm2
    • Slow progressors reach a final height of 140 cm to 150 cm2
  • MPS disorders have a common radiological expression known as dysostosis multiplex that involves almost all of the bony skeleton.12
    • Like other manifestations, skeletal expressions vary in severity from patient to patient12
    • However, the more radiological changes are present, the greater the likelihood of an MPS diagnosis. More12

Cardiac abnormalities are common2

Cardiac disorders are common in MPS VI and a frequent cause of morbidity and mortality. Heart disease in MPS VI patients has been shown to progress with severity correlating with age2:

  • Disease progression is related to abnormal storage of dermatan sulfate in the heart and blood vessels, as well as secondary effects of pulmonary disease and chronic hypoxia
  • Cardiac disorders most commonly manifest as progressive valve degeneration with stenosis or insufficiency
    • Other manifestations include electrocardiographic abnormalities, coronary artery disease, systemic vascular narrowing and hypertension, cardiomyopathy, and endocarditis

Undiagnosed patients may also present with delayed puberty:

  • Teens with MPS VI often go through the normal stages of puberty, although possibly later than their peers

Undiagnosed MPS VI patients may also come to you with ENT, ophthalmologic or radiological complications.2

 Next: Clinical manifestations

References

  1. NAGLAZYME [Prescribing Information]. Novato, CA: Biomarin; 2005.
  2. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120:405-418.
  3. Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr. 2004;144(5 Suppl):S3–S14.
  1. Harmatz P, Giugliani R, Schwartz I, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a Phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr. 2006;148:533-539.
  1. MPS I survey results: patterns in referral, diagnosis, and management of individuals with MPS I. National MPS society and Genzyme Corporation. April 2004. Available at: http://www.mpssociety.org/content/4067/Survey_Results/ Accessed: November 3, 2008.
  2. Heron D, Baumann C, Benichou JJ, Harpey JP, Le Merrer M. Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation. Eur J Pediatr. 2004;163:323-326.
  3. Lachman RS. Radiographic detection of mucopolysaccharidoses (MPS) BioMarin White Paper. A guide to understanding Maroteaux-Lamy Syndrome: Mucopolysaccharidosis (MPS) VI. The National MPS Society, Inc.